Canonical Allele Identifier: CA2695238525
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.155022449_155022450del , CM000685.2:g.155022449_155022450del GRCh38
NC_000023.10:g.154250724_154250725del , CM000685.1:g.154250724_154250725del GRCh37
NC_000023.9:g.153903918_153903919del NCBI36
NG_011403.1:g.5277_5278del
NG_011403.2:g.5277_5278del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.106_107del MANE Select ENSP00000353393.4:p.Met36AlafsTer3
ENST00000647125.1:c.106_107del ENSP00000496062.1:p.Met36AlafsTer3
ENST00000360256.8:c.106_107del ENSP00000353393.4:p.Met36AlafsTer3
ENST00000423959.5:c.38+4333_38+4334del ENSP00000409446.1:n.38+4333_38+4334del
ENST00000453950.1:c.88_89del ENSP00000389153.1:p.Met30AlafsTer3
NM_000132.3:c.106_107del NP_000123.1:p.Met36AlafsTer3
XM_011531126.1:c.38+4333_38+4334del XP_011529428.1:n.38+4333_38+4334del
NM_000132.4:c.106_107del MANE Select NP_000123.1:p.Met36AlafsTer3